CAJ | 학술논문

表观遗传学是指在不改变DNA序列的前提下，通过化学修饰的作用影响基因的表达，从而改变细胞乃至个体表型的可遗传性基因调节方式。 DNA甲基化是表观遗传学中研究的热点领域之一。近年来，大量研究表明重复序列、特定基因和CpG岛甲基化修饰异常以及印记丢失的发生都与肿瘤的发生发展密切相关。随着甲基化检测手段的不断进步，人们对基因组的甲基化模式有了更加全面的了解。在基因组中发现的异常甲基化位点作为甲基化标志物，可应用于疾病的诊断、治疗及预后评估。并且针对甲基化修饰异常所导致的癌症发生，应用去甲基化药物已在临床治疗中取得良好疗效。
표관유전학시지재불개변DNA서렬적전제하，통과화학수식적작용영향기인적표체，종이개변세포내지개체표형적가유전성기인조절방식。 DNA갑기화시표관유전학중연구적열점영역지일。근년래，대량연구표명중복서렬、특정기인화CpG도갑기화수식이상이급인기주실적발생도여종류적발생발전밀절상관。수착갑기화검측수단적불단진보，인문대기인조적갑기화모식유료경가전면적료해。재기인조중발현적이상갑기화위점작위갑기화표지물，가응용우질병적진단、치료급예후평고。병차침대갑기화수식이상소도치적암증발생，응용거갑기화약물이재림상치료중취득량호료효。
As a heritable regulation , epigenetics can regulate gene expression by other ways without changing the DNA sequence ,and change cell or individual phenotypes .DNA methylation is an issue in the field of epigenetics research.Recently,many studies have been demonstrated that the methylation of repetitive DNA ,spe-cific gene and CpG island and loss of imprinting play an important role in tumor occurrence .As the development of technological approaches to DNA methylation ,we have a more comprehensive understanding on methylation pat-terns.As specific markers,abnormal methylation sites in the genome can be used in the diagnosis ,treatment and prognosis predictor of disease .For tumor development caused by DNA methylation ,the application of demethylat-ing drugs have achieved good effect in clinical treatment .